Topics

PTC 124 / Vertex VX-809
My son has the following mutations: 1717 1g --> A (class I mutation) as well as s549R (class II mutation). “1717 1g --> a” is a class I mutation. More precisely, it is a splice site mutation which, however, triggers a stop codon. Is PTC 124 effective with this kind of mutation? The ...
24.03.2009
CF with two nonsense mutations
Hello, our son (5 weeks old) was born with meconium ileus and suffers from exocrine pancreatic insufficiency, which is being treated with pancreatin. By now, it is clear that he has CF. The genetic test showed a compound heterozygosity with nonsense mutation in exons 6 and 11 (heterozygous ...
02.03.2009
PCT 124
Dear expert advice team, I have the following mutations, 508 and R 1066C. Since R1066C is a so-called nonsense mutation: Could you inform me if PCT 124 can be a cure in this case or makes treatment more effective? Is there already a date when this drug will be available? Thank you very ...
24.02.2009
PCT 124
Does PCT 124 help in case of cftr dele 2,3?
24.02.2009
Information on PTC-124
Hello, I have read with great interest the question of a father of two CF children in Austria. In this question, the study drug PTC124 was mentioned. Could you please provide more information on this interesting medication and scientific approach? My daughter (28yr) suffers from CF, which was ...
15.01.2009
Stem Cells
Hello, Our first son is affected by Cystic Fibrosis. Currently I am pregnant again and heard about archival storage of stem cells from the umbilical cord. Is there really any sense in investing a lot of money there? Of course we would hope that science might be thus far advanced one day that our ...
13.11.2008
PTC-124
Could you please give me some information about PTC-124. My children have the mutation F508/R553X. PTC-124 is according to my research only applicable for stopp-mutations. As a consequence also to the ones of my children? How far is the research on this field really?
16.06.2008
Genotype F508/R553x, Gentamycin Inhalation
Hello, My 30-year old son has the genetic constellation delF508 and R553X. He inhales since approx. 20 years Colistin, after his Pseudomonas showed resistance against Gentamycin. Could he, nevertheless, inhale with Gentamycin? According to Professor Kerem, the substance PTC 124 is also ...
21.01.2008
uridintriphosphate
Hello, In the book „Cystic Fibrosis in Practice“ by „Věra Vávrová et al.,“ there is a note (p. 64) that a good combination for inhalation is amiloride with uridintriphosphate. Among other things it is mentioned that uridintriphosphate is not available here. I would like to ask whether ...
21.07.2008
Genetic therapy in Cystic Fibrosis
Dear expert-team, many people are talking about exchange of genes / genetic therapy. I would be interested in the latest research; what can be done by this method so far? Many greetings,
05.11.2007
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